Budd-Chiari Syndrome in a patient with Multiple Hypercoagulopathies.

OBJECTIVE: To describe a patient with Budd-Chiari syndrome (BCS) found to have multiple hypercoagulopathies.

CASE SUMMARY: A 33-year-old man who presented with abdominal distension, hematemesis, shortness of breath was found to have liver cirrhosis, portal hypertension and Budd-Chiari Syndrome. He was evaluated for hypercoagulability and was found to be heterozygous for Factor V Leiden mutation and his protein C level was 38% of normal. He was started on oral anticoagulation and underwent elective liver transplantation within 3 months of diagnosis.

DISCUSSION: In patients with Budd-Chiari syndrome, factor V Leiden is the second most commonly identified prothrombotic state after primary myeloproliferative disorders. There may be a coexistence of several thrombophilic states in patients with Budd-Chiari Syndrome.

CONCLUSIONS: Budd-Chiari syndrome is an uncommon disorder. Outcome is poor in many cases. Therefore, a successful diagnostic and therapeutic approach is of vital importance. A complete thrombophilia screening needs to be requested in all patients diagnosed with Budd-Chiari syndrome. Thorough investigation needs to be performed to identify an underlying process contributing to the hepatic venous outflow obstruction.